Canonical Allele Identifier: CA856573992
Gene:

Linked Data

dbSNP Id: rs1216459001
gnomAD v3: 8-88981189-A-G
gnomAD v4: 8-88981189-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.88981189A>G , CM000670.2:g.88981189A>G GRCh38
NC_000008.10:g.89993418A>G , CM000670.1:g.89993418A>G GRCh37
NC_000008.9:g.90062534A>G NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_002956667.1:n.179-99128T>C